rs199422141

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199422141(G;T)

Make rs199422141(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142886

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422141
dbSNP (classic)	rs199422141
ClinGen	rs199422141
ebi	rs199422141
HLI	rs199422141
Exac	rs199422141
Gnomad	rs199422141
Varsome	rs199422141
LitVar	rs199422141
Map	rs199422141
PheGenI	rs199422141
Biobank	rs199422141
1000 genomes	rs199422141
hgdp	rs199422141
ensembl	rs199422141
geneview	rs199422141
scholar	rs199422141
google	rs199422141
pharmgkb	rs199422141
gwascentral	rs199422141
openSNP	rs199422141
23andMe	rs199422141
SNPshot	rs199422141
SNPdbe	rs199422141
MSV3d	rs199422141
GWAS Ctlg	rs199422141

Max Magnitude

0

ClinVar
Risk	rs199422141(C;C) rs199422141(T;T)
Alt	rs199422141(C;C) rs199422141(T;T)
Reference	Rs199422141(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197112016C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020744.1,